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POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. Zusätzlich bieten wir Ihnen POC1 Centriolar Protein Homolog A (Chlamydomonas) Proteine (6) und viele weitere Produktgruppen zu diesem Protein an.
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we report the first patient with SOFT syndrome harboring compound heterozygous variants of POC1A. understanding POC1A mutations may provide appropriate management and genetic counseling to these patients and their families.
Result identified a novel mutation in POC1A of patients with primordial dwarfism and showed that this mutation causes the formation of multiple numbers of centrioles and multipolar spindles with abnormal chromosome arrangement.
POC1A may be added to ALMS1 (zeige ALMS1 Antikörper) and PCNT (zeige PCNT Antikörper) as examples of centrosomal or pericentriolar proteins whose dysfunction leads to extreme dyslipidaemic insulin (zeige INS Antikörper) resistance.
Poc1A and Poc1B (zeige POC1B Antikörper) play redundant, but essential, roles in generation of stable centrioles, but Poc1B (zeige POC1B Antikörper) may have additional independent functions during cell cycle progression.
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
Based on these data, we propose that Pix1 (zeige POC1B Antikörper) and Pix2 are microtubule-associated adaptor proteins that likely contribute to a range of developmental and cell division processes.
Spermatogonial stem cell transplantation studies revealed that Poc1a is essential for normal function of both Sertoli cells and germ cells.
POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome.
POC1 centriolar protein homolog A
, WD repeat domain 51A
, WD repeat-containing protein 51A